| Year |
Citation |
Score |
| 2020 |
Adam AP, Curry CJ, Hall JG, Keppler-Noreuil KM, Adam MP, Dobyns WB. Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis. American Journal of Medical Genetics. Part A. PMID 32924308 DOI: 10.1002/Ajmg.A.61847 |
0.359 |
|
| 2020 |
Oegema R, Barakat TS, Wilke M, Stouffs K, Amrom D, Aronica E, Bahi-Buisson N, Conti V, Fry AE, Geis T, Andres DG, Parrini E, Pogledic I, Said E, Soler D, ... ... Dobyns WB, et al. International consensus recommendations on the diagnostic work-up for malformations of cortical development. Nature Reviews. Neurology. PMID 32895508 DOI: 10.1038/S41582-020-0395-6 |
0.355 |
|
| 2020 |
Brock S, Vanderhasselt T, Vermaning S, Keymolen K, Régal L, Romaniello R, Wieczorek D, Storm TM, Schaeferhoff K, Hehr U, Kuechler A, Krägeloh-Mann I, Haack TB, Kasteleijn E, Schot R, ... ... Dobyns WB, et al. Defining the phenotypical spectrum associated with variants in . Journal of Medical Genetics. PMID 32571897 DOI: 10.1136/jmedgenet-2019-106740 |
0.317 |
|
| 2020 |
Lennox AL, Hoye ML, Jiang R, Johnson-Kerner BL, Suit LA, Venkataramanan S, Sheehan CJ, Alsina FC, Fregeau B, Aldinger KA, Moey C, Lobach I, Afenjar A, Babovic-Vuksanovic D, Bézieau S, ... ... Dobyns W, et al. Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development. Neuron. PMID 32135084 DOI: 10.1016/J.Neuron.2020.01.042 |
0.333 |
|
| 2020 |
Nambot S, Faivre L, Mirzaa G, Thevenon J, Bruel AL, Mosca-Boidron AL, Masurel-Paulet A, Goldenberg A, Le Meur N, Charollais A, Mignot C, Petit F, Rossi M, Metreau J, Layet V, ... ... Dobyns WB, et al. De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature. European Journal of Human Genetics : Ejhg. PMID 32005960 DOI: 10.1038/S41431-020-0571-6 |
0.324 |
|
| 2019 |
Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, ... ... Dobyns WB, et al. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain : a Journal of Neurology. PMID 31834374 DOI: 10.1093/Brain/Awz379 |
0.352 |
|
| 2019 |
Marzin P, Rondeau S, Aldinger KA, Alessandri JL, Isidor B, Heron D, Keren B, Dobyns WB, Cormier-Daire V. SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. PMID 31643139 DOI: 10.1002/ajmg.c.31746 |
0.369 |
|
| 2019 |
Haldipur P, Aldinger KA, Bernardo S, Deng M, Timms AE, Overman LM, Winter C, Lisgo SN, Razavi F, Silvestri E, Manganaro L, Adle-Biasette H, Guilmiot F, Russo R, Kidron D, ... ... Dobyns WB, et al. Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum. Science (New York, N.Y.). 366: 454-460. PMID 31624095 DOI: 10.1126/Science.Aax7526 |
0.607 |
|
| 2019 |
Lee S, Chen DY, Zaki MS, Maroofian R, Houlden H, Di Donato N, Abdin D, Morsy H, Mirzaa GM, Dobyns WB, McEvoy-Venneri J, Stanley V, James KN, Mancini GMS, Schot R, et al. Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. American Journal of Human Genetics. 105: 844-853. PMID 31585108 DOI: 10.1016/J.Ajhg.2019.08.013 |
0.558 |
|
| 2019 |
Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet JB, Carmignac V, Garret P, Bessis D, Boute O, Bron A, Captier G, Carmi E, ... ... Dobyns WB, et al. Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. Nature Genetics. PMID 31570889 DOI: 10.1038/S41588-019-0498-4 |
0.355 |
|
| 2019 |
Zenner K, Cheng CV, Jensen DM, Timms AE, Shivaram G, Bly R, Ganti S, Whitlock KB, Dobyns WB, Perkins J, Bennett JT. Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations. Jci Insight. PMID 31536475 DOI: 10.1172/Jci.Insight.129884 |
0.326 |
|
| 2019 |
Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, ... ... Dobyns WB, et al. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. American Journal of Human Genetics. PMID 31495489 DOI: 10.1016/J.Ajhg.2019.08.006 |
0.494 |
|
| 2019 |
Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, ... ... Dobyns WB, et al. Redefining the Etiologic Landscape of Cerebellar Malformations. American Journal of Human Genetics. PMID 31474318 DOI: 10.1016/J.Ajhg.2019.07.019 |
0.721 |
|
| 2019 |
Dobyns WB, Mirzaa GM. Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. PMID 31441589 DOI: 10.1002/ajmg.c.31736 |
0.363 |
|
| 2019 |
Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, ... ... Dobyns WB, et al. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. American Journal of Human Genetics. PMID 31327508 DOI: 10.1016/J.Ajhg.2019.06.014 |
0.448 |
|
| 2019 |
Vandervore LV, Schot R, Kasteleijn E, Oegema R, Stouffs K, Gheldof A, Grochowska MM, van der Sterre MLT, van Unen LMA, Wilke M, Elfferich P, van der Spek PJ, Heijsman D, Grandone A, Demmers JAA, ... ... Dobyns WB, et al. Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics. Brain : a Journal of Neurology. PMID 30879067 DOI: 10.1093/brain/awz045 |
0.33 |
|
| 2019 |
Moog U, Dobyns WB. An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 178: 414-422. PMID 30580480 DOI: 10.1002/ajmg.c.31667 |
0.318 |
|
| 2018 |
Aldinger KA, Dempsey JC, Tully HM, Grout ME, Mehaffey MG, Dobyns WB, Doherty D. Rhombencephalosynapsis: Fused cerebellum, confused geneticists. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 178: 432-439. PMID 30580482 DOI: 10.1002/Ajmg.C.31666 |
0.419 |
|
| 2018 |
Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME, Dremmen MHG, Schot R, Vandervore L, van Slegtenhorst MA, Wilke M, Kasteleijn E, Lee AS, Barry BJ, Chao KR, et al. MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. American Journal of Human Genetics. PMID 30471716 DOI: 10.1016/J.Ajhg.2018.10.019 |
0.448 |
|
| 2018 |
Tripathy R, Leca I, van Dijk T, Weiss J, van Bon BW, Sergaki MC, Gstrein T, Breuss M, Tian G, Bahi-Buisson N, Paciorkowski AR, Pagnamenta AT, Wenninger-Weinzierl A, Martinez-Reza MF, Landler L, ... ... Dobyns WB, et al. Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. Neuron. PMID 30449657 DOI: 10.1016/J.Neuron.2018.10.044 |
0.496 |
|
| 2018 |
Schanze I, Bunt J, Lim JWC, Schanze D, Dean RJ, Alders M, Blanchet P, Attié-Bitach T, Berland S, Boogert S, Boppudi S, Bridges CJ, Cho MT, Dobyns WB, Donnai D, et al. NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. American Journal of Human Genetics. 103: 752-768. PMID 30388402 DOI: 10.1016/J.Ajhg.2018.10.006 |
0.336 |
|
| 2018 |
Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakçalan H, Yılmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, ... ... Dobyns WB, et al. Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nature Genetics. PMID 30013181 DOI: 10.1038/S41588-018-0166-0 |
0.512 |
|
| 2018 |
Heinzen EL, O'Neill AC, Zhu X, Allen AS, Bahlo M, Chelly J, Dobyns WB, Freytag S, Guerrini R, Leventer RJ, Poduri A, Robertson SP, Walsh CA, Zhang M, et al. De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. Plos Genetics. 14: e1007281. PMID 29738522 DOI: 10.1371/journal.pgen.1007281 |
0.31 |
|
| 2018 |
Brock S, Stouffs K, Scalais E, D'Hooghe M, Keymolen K, Guerrini R, Dobyns WB, Di Donato N, Jansen AC. Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1. European Journal of Human Genetics : Ejhg. PMID 29706637 DOI: 10.1038/s41431-018-0146-y |
0.304 |
|
| 2018 |
Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, Olds C, Mei D, Chiari S, Carvill G, Myers CT, Rivière JB, Zaki MS, Gleeson JG, ... ... Dobyns WB, et al. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29671837 DOI: 10.1038/Gim.2018.8 |
0.612 |
|
| 2018 |
Fry AE, Fawcett KA, Zelnik N, Yuan H, Thompson BAN, Shemer-Meiri L, Cushion TD, Mugalaasi H, Sims D, Stoodley N, Chung SK, Rees MI, Patel CV, Brueton LA, Layet V, ... ... Dobyns WB, et al. De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. Brain : a Journal of Neurology. PMID 29365063 DOI: 10.1093/Brain/Awx358 |
0.308 |
|
| 2018 |
Steiner JE, McCoy GN, Hess CP, Dobyns WB, Metry DW, Drolet BA, Maheshwari M, Siegel DH. Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome. American Journal of Medical Genetics. Part A. 176: 48-55. PMID 29171184 DOI: 10.1002/ajmg.a.38523 |
0.304 |
|
| 2018 |
Vabres P, Sorlin A, Kholmanskikh S, Duffourd Y, Kuentz P, Carmignac V, Bessis D, Dobyns W, Polubothu S, Faravelli F, Kinsler V, Faivre L, Ross M, Rivière J. 794 Postzygotic dominant-negative mutations of RHOA cause a mosaic neuroectodermal syndrome Journal of Investigative Dermatology. 138: S135. DOI: 10.1016/J.Jid.2018.03.804 |
0.323 |
|
| 2017 |
Leibovitz Z, Mandel H, Falik-Zaccai TC, Ben Harouch S, Savitzki D, Krajden-Haratz K, Gindes L, Tamarkin M, Lev D, Dobyns WB, Lerman-Sagie T. Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. PMID 29337005 DOI: 10.1016/j.ejpn.2017.12.012 |
0.302 |
|
| 2017 |
Syrbe S, Harms FL, Parrini E, Montomoli M, Mütze U, Helbig KL, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne HO, ... ... Dobyns WB, et al. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. Brain : a Journal of Neurology. 140: 2322-2336. PMID 29050398 DOI: 10.1093/brain/awx195 |
0.376 |
|
| 2017 |
Alcantara D, Timms AE, Gripp K, Baker L, Park K, Collins S, Cheng C, Stewart F, Mehta SG, Saggar A, Sztriha L, Zombor M, Caluseriu O, Mesterman R, Van Allen MI, ... ... Dobyns WB, et al. Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain : a Journal of Neurology. 140: 2610-2622. PMID 28969385 DOI: 10.1093/Brain/Awx203 |
0.476 |
|
| 2017 |
De Mori R, Romani M, D'Arrigo S, Zaki MS, Lorefice E, Tardivo S, Biagini T, Stanley V, Musaev D, Fluss J, Micalizzi A, Nuovo S, Illi B, Chiapparini L, Di Marcotullio L, ... ... Dobyns WB, et al. Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. American Journal of Human Genetics. PMID 28965847 DOI: 10.1016/J.Ajhg.2017.08.017 |
0.556 |
|
| 2017 |
Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, ... ... Dobyns WB, et al. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. American Journal of Human Genetics. PMID 28625504 DOI: 10.1016/J.Ajhg.2017.05.010 |
0.407 |
|
| 2017 |
Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, Verheijen FW, et al. Human mutations in integrator complex subunits link transcriptome integrity to brain development. Plos Genetics. 13: e1006809. PMID 28542170 DOI: 10.1371/Journal.Pgen.1006809 |
0.355 |
|
| 2017 |
Di Donato N, Chiari S, Mirzaa GM, Aldinger K, Parrini E, Olds C, Barkovich AJ, Guerrini R, Dobyns WB. Lissencephaly: Expanded imaging and clinical classification. American Journal of Medical Genetics. Part A. 173: 1473-1488. PMID 28440899 DOI: 10.1002/Ajmg.A.38245 |
0.37 |
|
| 2017 |
Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, ... ... Dobyns WB, et al. Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nature Genetics. PMID 28092684 DOI: 10.1038/Ng.3762 |
0.547 |
|
| 2017 |
Haldipur P, Dang D, Aldinger KA, Janson OK, Guimiot F, Adle-Biasette H, Dobyns WB, Siebert JR, Russo R, Millen KJ. Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms. Elife. 6. PMID 28092268 DOI: 10.7554/Elife.20898 |
0.609 |
|
| 2017 |
Vabres P, Sorlin A, Kholmanskikh S, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet J, carmignac v, Bessis D, Bernard G, Dobyns W, Faivre L, Ross M, Rivière J. 616 Postzygotic mutations of RHOA cause a mosaic neuroectodermal syndrome Journal of Investigative Dermatology. 137: S298. DOI: 10.1016/J.Jid.2017.07.292 |
0.33 |
|
| 2016 |
Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, ... ... Dobyns WB, et al. Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 27831545 DOI: 10.1038/gim.2016.176 |
0.327 |
|
| 2016 |
Moore CA, Staples JE, Dobyns WB, Pessoa A, Ventura CV, Fonseca EB, Ribeiro EM, Ventura LO, Neto NN, Arena JF, Rasmussen SA. Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians. Jama Pediatrics. PMID 27812690 DOI: 10.1001/Jamapediatrics.2016.3982 |
0.339 |
|
| 2016 |
Parrini E, Conti V, Dobyns WB, Guerrini R. Genetic Basis of Brain Malformations. Molecular Syndromology. 7: 220-233. PMID 27781032 DOI: 10.1159/000448639 |
0.367 |
|
| 2016 |
Di Donato N, Jean YY, Maga AM, Krewson BD, Shupp AB, Avrutsky MI, Roy A, Collins S, Olds C, Willert RA, Czaja AM, Johnson R, Stover JA, Gottlieb S, Bartholdi D, ... ... Dobyns WB, et al. Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. American Journal of Human Genetics. PMID 27773430 DOI: 10.1016/J.Ajhg.2016.09.010 |
0.617 |
|
| 2016 |
Ravenscroft G, Di Donato N, Hahn G, Davis MR, Craven PD, Poke G, Neas KR, Neuhann TM, Dobyns WB, Laing NG. Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria. Neuromuscular Disorders : Nmd. PMID 27751653 DOI: 10.1016/J.Nmd.2016.09.009 |
0.457 |
|
| 2016 |
Mirzaa G, Timms AE, Conti V, Boyle EA, Girisha KM, Martin B, Kircher M, Olds C, Juusola J, Collins S, Park K, Carter M, Glass I, Krägeloh-Mann I, Chitayat D, ... ... Dobyns WB, et al. PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. Jci Insight. 1. PMID 27631024 DOI: 10.1172/Jci.Insight.87623 |
0.451 |
|
| 2016 |
Gripp KW, Aldinger KA, Bennett JT, Baker L, Tusi J, Powell-Hamilton N, Stabley D, Sol-Church K, Timms AE, Dobyns WB. A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. American Journal of Medical Genetics. Part A. PMID 27264673 DOI: 10.1002/Ajmg.A.37781 |
0.343 |
|
| 2016 |
Di Donato N, Kuechler A, Velgano S, Heinritz W, Bodurtha J, Merchant SR, Breningstall G, Ladda R, Sell S, Altmüller J, Bögershausen N, Timms AE, Hackmann K, Schrock E, Collins S, ... ... Dobyns WB, et al. Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. American Journal of Medical Genetics. Part A. PMID 27240540 DOI: 10.1002/Ajmg.A.37771 |
0.405 |
|
| 2016 |
Twigg SR, Hufnagel RB, Miller KA, Zhou Y, McGowan SJ, Taylor J, Craft J, Taylor JC, Santoro SL, Huang T, Hopkin RJ, Brady AF, Clayton-Smith J, Clericuzio CL, Grange DK, ... ... Dobyns WB, et al. A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. American Journal of Human Genetics. PMID 27236920 DOI: 10.1016/J.Ajhg.2016.04.007 |
0.359 |
|
| 2016 |
Mirzaa GM, Campbell CD, Solovieff N, Goold CP, Jansen LA, Menon S, Timms AE, Conti V, Biag JD, Olds C, Boyle EA, Collins S, Ishak G, Poliachik SL, Girisha KM, ... ... Dobyns WB, et al. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. Jama Neurology. PMID 27159400 DOI: 10.1001/Jamaneurol.2016.0363 |
0.398 |
|
| 2016 |
Bennett JT, Tan TY, Alcantara D, Tétrault M, Timms AE, Jensen D, Collins S, Nowaczyk MJ, Lindhurst MJ, Christensen KM, Braddock SR, Brandling-Bennett H, Hennekam RC, Chung B, Lehman A, ... ... Dobyns WB, et al. Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. American Journal of Human Genetics. 98: 579-87. PMID 26942290 DOI: 10.1016/J.Ajhg.2016.02.006 |
0.305 |
|
| 2015 |
Mishra-Gorur K, Çağlayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümüş GT, Nishimura S, Han W, Tu S, Baran B, Gümüş H, Dilber C, Zaki MS, Hossni HAA, ... ... Dobyns WB, et al. Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors. Neuron. 85: 228. PMID 29654772 DOI: 10.1016/J.Neuron.2014.12.046 |
0.519 |
|
| 2015 |
Aldinger KA, Mendelsohn NJ, Chung BH, Zhang W, Cohn DH, Fernandez B, Alkuraya FS, Dobyns WB, Curry CJ. Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations. Journal of Medical Genetics. PMID 26671912 DOI: 10.1136/jmedgenet-2015-103476 |
0.353 |
|
| 2015 |
Roy A, Skibo J, Kalume F, Ni J, Rankin S, Lu Y, Dobyns WB, Mills GB, Zhao JJ, Baker SJ, Millen KJ. Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy. Elife. 4. PMID 26633882 DOI: 10.7554/Elife.12703 |
0.625 |
|
| 2015 |
Mirzaa GM, Conti V, Timms AE, Smyser CD, Ahmed S, Carter M, Barnett S, Hufnagel RB, Goldstein A, Narumi-Kishimoto Y, Olds C, Collins S, Johnston K, Deleuze JF, Nitschké P, ... ... Dobyns WB, et al. Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. The Lancet. Neurology. PMID 26520804 DOI: 10.1016/S1474-4422(15)00278-1 |
0.416 |
|
| 2015 |
Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, et al. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. Human Mutation. PMID 26507355 DOI: 10.1002/Humu.22924 |
0.364 |
|
| 2015 |
Leto K, Arancillo M, Becker EB, Buffo A, Chiang C, Ding B, Dobyns WB, Dusart I, Haldipur P, Hatten ME, Hoshino M, Joyner AL, Kano M, Kilpatrick DL, Koibuchi N, et al. Consensus Paper: Cerebellar Development. Cerebellum (London, England). PMID 26439486 DOI: 10.1007/S12311-015-0724-2 |
0.559 |
|
| 2015 |
McMahon KQ, Papandreou A, Ma M, Barry BJ, Mirzaa GM, Dobyns WB, Scott RH, Trump N, Kurian MA, Paciorkowski AR. Familial recurrences of FOXG1-related disorder: Evidence for mosaicism. American Journal of Medical Genetics. Part A. PMID 26364767 DOI: 10.1002/ajmg.a.37353 |
0.305 |
|
| 2015 |
Tully HM, Ishak GE, Rue TC, Dempsey JC, Browd SR, Millen KJ, Doherty D, Dobyns WB. Two Hundred Thirty-Six Children With Developmental Hydrocephalus: Causes and Clinical Consequences. Journal of Child Neurology. PMID 26184484 DOI: 10.1177/0883073815592222 |
0.566 |
|
| 2015 |
Oegema R, Cushion TD, Phelps IG, Chung SK, Dempsey JC, Collins S, Mullins JG, Dudding T, Gill H, Green AJ, Dobyns WB, Ishak GE, Rees MI, Doherty D. Recognisable cerebellar dysplasia associated with mutations in multiple tubulin genes. Human Molecular Genetics. PMID 26130693 DOI: 10.1093/hmg/ddv250 |
0.376 |
|
| 2015 |
Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T, Miccinilli E, Zaki MS, Swoboda KJ, Milisa-Drautz J, Dobyns WB, et al. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife. 4. PMID 26026149 DOI: 10.7554/Elife.06602 |
0.552 |
|
| 2015 |
Hansen J, Snow C, Tuttle E, Ghoneim DH, Yang CS, Spencer A, Gunter SA, Smyser CD, Gurnett CA, Shinawi M, Dobyns WB, Wheless J, Halterman MW, Jansen LA, Paschal BM, et al. De novo mutations in SIK1 cause a spectrum of developmental epilepsies. American Journal of Human Genetics. 96: 682-90. PMID 25839329 DOI: 10.1016/J.Ajhg.2015.02.013 |
0.339 |
|
| 2015 |
Jansen LA, Mirzaa GM, Ishak GE, O'Roak BJ, Hiatt JB, Roden WH, Gunter SA, Christian SL, Collins S, Adams C, Rivière JB, St-Onge J, Ojemann JG, Shendure J, Hevner RF, ... Dobyns WB, et al. PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. Brain : a Journal of Neurology. 138: 1613-28. PMID 25722288 DOI: 10.1093/Brain/Awv045 |
0.358 |
|
| 2015 |
Luks VL, Kamitaki N, Vivero MP, Uller W, Rab R, Bovée JV, Rialon KL, Guevara CJ, Alomari AI, Greene AK, Fishman SJ, Kozakewich HP, Maclellan RA, Mulliken JB, Rahbar R, ... ... Dobyns WB, et al. Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA. The Journal of Pediatrics. 166: 1048-54.e1-5. PMID 25681199 DOI: 10.1016/J.Jpeds.2014.12.069 |
0.319 |
|
| 2015 |
Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. American Journal of Medical Genetics. Part A. 167: 287-95. PMID 25557259 DOI: 10.1002/Ajmg.A.36836 |
0.439 |
|
| 2015 |
Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, ... ... Dobyns WB, et al. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. European Journal of Human Genetics : Ejhg. 23: 292-301. PMID 25052316 DOI: 10.1038/Ejhg.2014.95 |
0.399 |
|
| 2015 |
Barkovich AJ, Dobyns WB, Guerrini R. Malformations of cortical development and epilepsy Cold Spring Harbor Perspectives in Medicine. 5. DOI: 10.1101/Cshperspect.A022392 |
0.39 |
|
| 2014 |
Mishra-Gorur K, Ça?layan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümü? GT, Nishimura S, Han W, Tu S, Baran B, Gümü? H, Dilber C, Zaki MS, Hossni HA, ... ... Dobyns WB, et al. Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. Neuron. 84: 1226-39. PMID 25521378 DOI: 10.1016/J.Neuron.2014.12.014 |
0.575 |
|
| 2014 |
French CR, Seshadri S, Destefano AL, Fornage M, Arnold CR, Gage PJ, Skarie JM, Dobyns WB, Millen KJ, Liu T, Dietz W, Kume T, Hofker M, Emery DJ, Childs SJ, et al. Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease. The Journal of Clinical Investigation. 124: 4877-81. PMID 25250569 DOI: 10.1172/Jci75109 |
0.616 |
|
| 2014 |
Kakar N, Ahmad J, Morris-Rosendahl DJ, Altmüller J, Friedrich K, Barbi G, Nürnberg P, Kubisch C, Dobyns WB, Borck G. STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly Human Genetics. 134: 45-51. PMID 25218063 DOI: 10.1007/s00439-014-1487-4 |
0.411 |
|
| 2014 |
Guerrini R, Dobyns WB. Malformations of cortical development: Clinical features and genetic causes The Lancet Neurology. 13: 710-726. PMID 24932993 DOI: 10.1016/S1474-4422(14)70040-7 |
0.345 |
|
| 2014 |
Mirzaa GM, Vitre B, Carpenter G, Abramowicz I, Gleeson JG, Paciorkowski AR, Cleveland DW, Dobyns WB, O'Driscoll M. Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. Human Genetics. 133: 1023-39. PMID 24748105 DOI: 10.1007/S00439-014-1443-3 |
0.537 |
|
| 2014 |
Mirzaa GM, Parry DA, Fry AE, Giamanco KA, Schwartzentruber J, Vanstone M, Logan CV, Roberts N, Johnson CA, Singh S, Kholmanskikh SS, Adams C, Hodge RD, Hevner RF, Bonthron DT, ... ... Dobyns WB, et al. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nature Genetics. 46: 510-5. PMID 24705253 DOI: 10.1038/Ng.2948 |
0.413 |
|
| 2014 |
Cushion TD, Paciorkowski AR, Pilz DT, Mullins JG, Seltzer LE, Marion RW, Tuttle E, Ghoneim D, Christian SL, Chung SK, Rees MI, Dobyns WB. De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy. American Journal of Human Genetics. 94: 634-41. PMID 24702957 DOI: 10.1016/j.ajhg.2014.03.009 |
0.325 |
|
| 2014 |
Mirzaa GM, Millen KJ, Barkovich AJ, Dobyns WB, Paciorkowski AR. The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications. American Journal of Medical Genetics. Part A. 164: 1503-11. PMID 24700709 DOI: 10.1002/ajmg.a.36517 |
0.628 |
|
| 2014 |
Johnston JJ, Sapp JC, Curry C, Horton M, Leon E, Cusmano-Ozog K, Dobyns WB, Hudgins L, Zackai E, Biesecker LG. Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. American Journal of Medical Genetics. Part A. 164: 120-8. PMID 24259342 DOI: 10.1002/ajmg.a.36212 |
0.36 |
|
| 2014 |
Cacciagli P, Desvignes JP, Girard N, Delepine M, Zelenika D, Lathrop M, Lévy N, Ledbetter DH, Dobyns WB, Villard L. AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). European Journal of Human Genetics : Ejhg. 22: 363-8. PMID 23756445 DOI: 10.1038/Ejhg.2013.135 |
0.39 |
|
| 2013 |
Shiba N, Daza RA, Shaffer LG, Barkovich AJ, Dobyns WB, Hevner RF. Neuropathology of brain and spinal malformations in a case of monosomy 1p36. Acta Neuropathologica Communications. 1: 45. PMID 24252393 DOI: 10.1186/2051-5960-1-45 |
0.302 |
|
| 2013 |
Tully HM, Dempsey JC, Ishak GE, Adam MP, Mink JW, Dobyns WB, Gospe SM, Weiss A, Phillips JO, Doherty D. Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis. Movement Disorders : Official Journal of the Movement Disorder Society. 28: 2019-23. PMID 24105968 DOI: 10.1002/Mds.25634 |
0.539 |
|
| 2013 |
Sajan SA, Fernandez L, Nieh SE, Rider E, Bukshpun P, Wakahiro M, Christian SL, Rivière JB, Sullivan CT, Sudi J, Herriges MJ, Paciorkowski AR, Barkovich AJ, Glessner JT, Millen KJ, ... ... Dobyns WB, et al. Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. Plos Genetics. 9: e1003823. PMID 24098143 DOI: 10.1371/Journal.Pgen.1003823 |
0.656 |
|
| 2013 |
Conti V, Carabalona A, Pallesi-Pocachard E, Parrini E, Leventer RJ, Buhler E, McGillivray G, Michel FJ, Striano P, Mei D, Watrin F, Lise S, Pagnamenta AT, Taylor JC, Kini U, ... ... Dobyns WB, et al. Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. Brain : a Journal of Neurology. 136: 3378-94. PMID 24056535 DOI: 10.1093/Brain/Awt249 |
0.418 |
|
| 2013 |
Gripp KW, Zand DJ, Demmer L, Anderson CE, Dobyns WB, Zackai EH, Denenberg E, Jenny K, Stabley DL, Sol-Church K. Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis American Journal of Medical Genetics, Part A. 161: 2420-2430. PMID 23918763 DOI: 10.1002/ajmg.a.36098 |
0.4 |
|
| 2013 |
Curry CJ, Rosenfeld JA, Grant E, Gripp KW, Anderson C, Aylsworth AS, Saad TB, Chizhikov VV, Dybose G, Fagerberg C, Falco M, Fels C, Fichera M, Graakjaer J, Greco D, ... ... Dobyns WB, et al. The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. American Journal of Medical Genetics. Part A. 161: 1833-52. PMID 23813913 DOI: 10.1002/Ajmg.A.35996 |
0.426 |
|
| 2013 |
Paciorkowski AR, Keppler-Noreuil K, Robinson L, Sullivan C, Sajan S, Christian SL, Bukshpun P, Gabriel SB, Gleeson JG, Sherr EH, Dobyns WB. Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption. American Journal of Medical Genetics. Part A. 161: 1523-30. PMID 23704059 DOI: 10.1002/Ajmg.A.35969 |
0.608 |
|
| 2013 |
Darbro BW, Mahajan VB, Gakhar L, Skeie JM, Campbell E, Wu S, Bing X, Millen KJ, Dobyns WB, Kessler JA, Jalali A, Cremer J, Segre A, Manak JR, Aldinger KA, et al. Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles. Human Mutation. 34: 1075-9. PMID 23674478 DOI: 10.1002/Humu.22351 |
0.632 |
|
| 2013 |
Mirzaa GM, Rivière JB, Dobyns WB. Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 163: 122-130. PMID 23592320 DOI: 10.1002/ajmg.c.31361 |
0.378 |
|
| 2013 |
Mirzaa GM, Paciorkowski AR, Marsh ED, Berry-Kravis EM, Medne L, Alkhateeb A, Grix A, Wirrell EC, Powell BR, Nickels KC, Burton B, Paras A, Kim K, Chung W, Dobyns WB, et al. CDKL5 and ARX mutations in males with early-onset epilepsy. Pediatric Neurology. 48: 367-77. PMID 23583054 DOI: 10.1016/J.Pediatrneurol.2012.12.030 |
0.312 |
|
| 2013 |
McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Lee LJ, Clericuzio CL, Graham JM, Morris-Rosendahl DJ, Polster T, Acsadi G, Townshend S, Williams S, Halbert A, Isidor B, ... ... Dobyns WB, et al. Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nature Genetics. 45: 556-62. PMID 23542699 DOI: 10.1038/Ng.2602 |
0.371 |
|
| 2013 |
Radmanesh F, Caglayan AO, Silhavy JL, Yilmaz C, Cantagrel V, Omar T, Rosti B, Kaymakcalan H, Gabriel S, Li M, Sestan N, Bilguvar K, Dobyns WB, Zaki MS, Gunel M, et al. Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. American Journal of Human Genetics. 92: 468-74. PMID 23472759 DOI: 10.1016/J.Ajhg.2013.02.005 |
0.614 |
|
| 2013 |
Stevens E, Carss KJ, Cirak S, Foley AR, Torelli S, Willer T, Tambunan DE, Yau S, Brodd L, Sewry CA, Feng L, Haliloglu G, Orhan D, Dobyns WB, Enns GM, et al. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. American Journal of Human Genetics. 92: 354-65. PMID 23453667 DOI: 10.1016/J.Ajhg.2013.01.016 |
0.333 |
|
| 2013 |
Cushion TD, Dobyns WB, Mullins JGL, Stoodley N, Chung SK, Fry AE, Hehr U, Gunny R, Aylsworth AS, Prabhakar P, Uyanik G, Rankin J, Rees MI, Pilz DT. Overlapping cortical malformations and mutations in TUBB2B and TUBA1A Brain. 136: 536-548. PMID 23361065 DOI: 10.1093/brain/aws338 |
0.404 |
|
| 2013 |
Rush ET, Adam MP, Clark RD, Curry C, Hartmann JE, Dobyns WB, Olney AH. Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria. American Journal of Medical Genetics. Part A. 161: 320-6. PMID 23292994 DOI: 10.1002/Ajmg.A.35817 |
0.408 |
|
| 2013 |
Aldinger KA, Kogan J, Kimonis V, Fernandez B, Horn D, Klopocki E, Chung B, Toutain A, Weksberg R, Millen KJ, Barkovich AJ, Dobyns WB. Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion. American Journal of Medical Genetics. Part A. 161: 131-6. PMID 23225497 DOI: 10.1002/Ajmg.A.35700 |
0.657 |
|
| 2013 |
Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Rieß A, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, ... ... Dobyns WB, et al. Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. Human Mutation. 34: 237-47. PMID 23033313 DOI: 10.1002/humu.22224 |
0.432 |
|
| 2012 |
Traylor RN, Dobyns WB, Rosenfeld JA, Wheeler P, Spence JE, Bandholz AM, Bawle EV, Carmany EP, Powell CM, Hudson B, Schultz RA, Shaffer LG, Ballif BC. Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions. Molecular Syndromology. 3: 102-112. PMID 23112752 DOI: 10.1159/000342008 |
0.358 |
|
| 2012 |
Tully HM, Dempsey JC, Ishak GE, Adam MP, Curry CJ, Sanchez-Lara P, Hunter A, Gripp KW, Allanson J, Cunniff C, Glass I, Millen KJ, Doherty D, Dobyns WB. Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis. American Journal of Medical Genetics. Part A. 158: 2393-406. PMID 22965664 DOI: 10.1002/Ajmg.A.35561 |
0.649 |
|
| 2012 |
Pisano T, Barkovich AJ, Leventer RJ, Squier W, Scheffer IE, Parrini E, Blaser S, Marini C, Robertson S, Tortorella G, Rosenow F, Thomas P, McGillivray G, Andermann E, Andermann F, ... ... Dobyns WB, et al. Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis. Neurology. 79: 1244-51. PMID 22914838 DOI: 10.1212/WNL.0b013e31826aac88 |
0.393 |
|
| 2012 |
Zaki MS, Saleem SN, Dobyns WB, Barkovich AJ, Bartsch H, Dale AM, Ashtari M, Akizu N, Gleeson JG, Grijalvo-Perez AM. Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation. Brain : a Journal of Neurology. 135: 2416-27. PMID 22822038 DOI: 10.1093/Brain/Aws162 |
0.518 |
|
| 2012 |
Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, ... ... Dobyns WB, et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nature Genetics. 44: 934-40. PMID 22729224 DOI: 10.1038/Ng.2331 |
0.463 |
|
| 2012 |
Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, et al. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nature Genetics. 44: 575-80. PMID 22522420 DOI: 10.1038/Ng.2252 |
0.475 |
|
| 2012 |
Ishak GE, Dempsey JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, Glass I, Rue TC, Millen KJ, Dobyns WB, Doherty D. Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. Brain : a Journal of Neurology. 135: 1370-86. PMID 22451504 DOI: 10.1093/Brain/Aws065 |
0.668 |
|
| 2012 |
Rivière JB, van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, ... ... Dobyns WB, et al. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nature Genetics. 44: 440-4, S1-2. PMID 22366783 DOI: 10.1038/Ng.1091 |
0.508 |
|
| 2012 |
Mirzaa GM, Conway RL, Gripp KW, Lerman-Sagie T, Siegel DH, deVries LS, Lev D, Kramer N, Hopkins E, Graham JM, Dobyns WB. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis American Journal of Medical Genetics, Part A. 158: 269-291. PMID 22228622 DOI: 10.1002/Ajmg.A.34402 |
0.434 |
|
| 2011 |
Paciorkowski AR, Thio LL, Dobyns WB. Genetic and biologic classification of infantile spasms Pediatric Neurology. 45: 355-367. PMID 22114996 DOI: 10.1016/j.pediatrneurol.2011.08.010 |
0.318 |
|
| 2011 |
Zaki MS, Salam GM, Saleem SN, Dobyns WB, Issa MY, Sattar S, Gleeson JG. New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect. American Journal of Medical Genetics. Part A. 155: 3035-41. PMID 22002884 DOI: 10.1002/Ajmg.A.34078 |
0.541 |
|
| 2011 |
Moog U, Kutsche K, Kortüm F, Chilian B, Bierhals T, Apeshiotis N, Balg S, Chassaing N, Coubes C, Das S, Engels H, Van Esch H, Grasshoff U, Heise M, Isidor B, ... ... Dobyns WB, et al. Phenotypic spectrum associated with CASK loss-of-function mutations. Journal of Medical Genetics. 48: 741-51. PMID 21954287 DOI: 10.1136/Jmedgenet-2011-100218 |
0.434 |
|
| 2011 |
Gripp KW, Hopkins E, Johnston JJ, Krause C, Dobyns WB, Biesecker LG. Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene American Journal of Medical Genetics, Part A. 155: 2516-2520. PMID 21910224 DOI: 10.1002/ajmg.a.34190 |
0.369 |
|
| 2011 |
Mirzaa GM, Paciorkowski AR, Smyser CD, Willing MC, Lind AC, Dobyns WB. The microcephaly-capillary malformation syndrome American Journal of Medical Genetics, Part A. 155: 2080-2087. PMID 21815250 DOI: 10.1002/ajmg.a.34118 |
0.309 |
|
| 2011 |
Osbun N, Li J, O'Driscoll MC, Strominger Z, Wakahiro M, Rider E, Bukshpun P, Boland E, Spurrell CH, Schackwitz W, Pennacchio LA, Dobyns WB, Black GC, Sherr EH. Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene. American Journal of Medical Genetics. Part A. 155: 1865-76. PMID 21739582 DOI: 10.1002/Ajmg.A.34081 |
0.367 |
|
| 2011 |
Labelle-Dumais C, Dilworth DJ, Harrington EP, de Leau M, Lyons D, Kabaeva Z, Manzini MC, Dobyns WB, Walsh CA, Michele DE, Gould DB. COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. Plos Genetics. 7: e1002062. PMID 21625620 DOI: 10.1371/Journal.Pgen.1002062 |
0.474 |
|
| 2011 |
Bem D, Yoshimura S, Nunes-Bastos R, Bond FC, Bond FF, Kurian MA, Rahman F, Handley MT, Hadzhiev Y, Masood I, Straatman-Iwanowska AA, Cullinane AR, McNeill A, Pasha SS, Kirby GA, ... ... Dobyns WB, et al. Loss-of-function mutations in RAB18 cause Warburg micro syndrome. American Journal of Human Genetics. 88: 499-507. PMID 21473985 DOI: 10.1016/J.Ajhg.2011.03.012 |
0.489 |
|
| 2011 |
Kortüm F, Das S, Flindt M, Morris-Rosendahl DJ, Stefanova I, Goldstein A, Horn D, Klopocki E, Kluger G, Martin P, Rauch A, Roumer A, Saitta S, Walsh LE, Wieczorek D, ... ... Dobyns WB, et al. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. Journal of Medical Genetics. 48: 396-406. PMID 21441262 DOI: 10.1136/Jmg.2010.087528 |
0.527 |
|
| 2011 |
Conti V, Marini C, Gana S, Sudi J, Dobyns WB, Guerrini R. Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX American Journal of Medical Genetics, Part A. 155: 892-897. PMID 21416597 DOI: 10.1002/ajmg.a.33923 |
0.367 |
|
| 2011 |
Hanna RM, Marsh SE, Swistun D, Al-Gazali L, Zaki MS, Abdel-Salam GM, Al-Tawari A, Bastaki L, Kayserili H, Rajab A, Boglárka B, Dietrich RB, Dobyns WB, Truwit CL, Sattar S, et al. Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families. Neurology. 76: 373-82. PMID 21263138 DOI: 10.1212/Wnl.0B013E318208F492 |
0.589 |
|
| 2011 |
Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, Krägeloh-Mann I, De Meirleir L, King M, ... ... Dobyns WB, et al. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain : a Journal of Neurology. 134: 143-56. PMID 20952379 DOI: 10.1093/Brain/Awq287 |
0.476 |
|
| 2010 |
Oegema R, de Klein A, Verkerk AJ, Schot R, Dumee B, Douben H, Eussen B, Dubbel L, Poddighe PJ, van der Laar I, Dobyns WB, van der Spek PJ, Lequin MH, de Coo IF, de Wit MC, et al. Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A. Molecular Syndromology. 1: 113-120. PMID 21031080 DOI: 10.1159/000320113 |
0.449 |
|
| 2010 |
Basel-Vanagaite L, Raas-Rotchild A, Kornreich L, Har-Zahav A, Yeshaya J, Latarowski V, Lerer I, Dobyns WB, Shohat M. Familial hydrocephalus with normal cognition and distinctive radiological features American Journal of Medical Genetics, Part A. 152: 2743-2748. PMID 20979187 DOI: 10.1002/Ajmg.A.33688 |
0.409 |
|
| 2010 |
Kaufmann R, Straussberg R, Mandel H, Fattal-Valevski A, Ben-Zeev B, Naamati A, Shaag A, Zenvirt S, Konen O, Mimouni-Bloch A, Dobyns WB, Edvardson S, Pines O, Elpeleg O. Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex American Journal of Human Genetics. 87: 667-670. PMID 20950787 DOI: 10.1016/J.Ajhg.2010.09.016 |
0.506 |
|
| 2010 |
Reese J, Aldinger KA, Dobyns WB, Gripp KW. X-linked hereditary hemihypotrophy hemiparesis hemiathetosis. American Journal of Medical Genetics. Part A. 152: 2727-30. PMID 20949603 DOI: 10.1002/Ajmg.A.33545 |
0.35 |
|
| 2010 |
Nicholas AK, Khurshid M, Désir J, Carvalho OP, Cox JJ, Thornton G, Kausar R, Ansar M, Ahmad W, Verloes A, Passemard S, Misson JP, Lindsay S, Gergely F, Dobyns WB, et al. WDR62 is associated with the spindle pole and is mutated in human microcephaly. Nature Genetics. 42: 1010-4. PMID 20890279 DOI: 10.1038/Ng.682 |
0.434 |
|
| 2010 |
Yu TW, Mochida GH, Tischfield DJ, Sgaier SK, Flores-Sarnat L, Sergi CM, Topçu M, McDonald MT, Barry BJ, Felie JM, Sunu C, Dobyns WB, Folkerth RD, Barkovich AJ, Walsh CA. Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nature Genetics. 42: 1015-20. PMID 20890278 DOI: 10.1038/Ng.683 |
0.382 |
|
| 2010 |
Graham JM, Spencer AH, Grinberg I, Niesen CE, Platt LD, Maya M, Namavar Y, Baas F, Dobyns WB. Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible? American Journal of Medical Genetics. Part A. 152: 2268-76. PMID 20803644 DOI: 10.1002/Ajmg.A.33579 |
0.468 |
|
| 2010 |
O'Driscoll MC, Daly SB, Urquhart JE, Black GC, Pilz DT, Brockmann K, McEntagart M, Abdel-Salam G, Zaki M, Wolf NI, Ladda RL, Sell S, D'Arrigo S, Squier W, Dobyns WB, et al. Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. American Journal of Human Genetics. 87: 354-64. PMID 20727516 DOI: 10.1016/J.Ajhg.2010.07.012 |
0.494 |
|
| 2010 |
O'Driscoll MC, Black GC, Clayton-Smith J, Sherr EH, Dobyns WB. Identification of genomic loci contributing to agenesis of the corpus callosum. American Journal of Medical Genetics. Part A. 152: 2145-59. PMID 20683985 DOI: 10.1002/Ajmg.A.33558 |
0.43 |
|
| 2010 |
Basel-Vanagaite L, Dobyns WB. Clinical and Brain Imaging Heterogeneity of Severe Microcephaly Pediatric Neurology. 43: 7-16. PMID 20682196 DOI: 10.1016/J.Pediatrneurol.2010.02.015 |
0.39 |
|
| 2010 |
Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blümel P, Sykut-Cegielska J, Houliston S, Swistun D, ... ... Dobyns WB, et al. SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell. 142: 203-17. PMID 20637498 DOI: 10.1016/J.Cell.2010.06.001 |
0.573 |
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| 2010 |
Rankin J, Brown R, Dobyns WB, Harington J, Patel J, Quinn M, Brown G. Pontocerebellar hypoplasia type 6: A British case with PEHO-like features American Journal of Medical Genetics, Part A. 152: 2079-2084. PMID 20635367 DOI: 10.1002/Ajmg.A.33531 |
0.442 |
|
| 2010 |
O'Driscoll MC, Jenny K, Saitta S, Dobyns WB, Gripp KW. Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome? American Journal of Medical Genetics, Part A. 152: 1621-1626. PMID 20583147 DOI: 10.1002/Ajmg.A.33200 |
0.419 |
|
| 2010 |
Carr CW, Moreno-De-Luca D, Parker C, Zimmerman HH, Ledbetter N, Martin CL, Dobyns WB, Abdul-Rahman OA. Chiari i malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency European Journal of Human Genetics. 18: 1216-1220. PMID 20571508 DOI: 10.1038/Ejhg.2010.96 |
0.372 |
|
| 2010 |
Verkerk AJMH, Schot R, Van Waterschoot L, Douben H, Poddighe PJ, Lequin MH, De Vries LS, Terhal P, Hahnemann JMD, De Coo IFM, De Wit MCY, Wafelman LS, Garavelli L, Dobyns WB, Van Der Spek PJ, et al. Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus American Journal of Medical Genetics, Part A. 152: 1488-1497. PMID 20503325 DOI: 10.1002/Ajmg.A.33408 |
0.388 |
|
| 2010 |
Kumar RA, Pilz DT, Babatz TD, Cushion TD, Harvey K, Topf M, Yates L, Robb S, Uyanik G, Mancini GM, Rees MI, Harvey RJ, Dobyns WB. TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Human Molecular Genetics. 19: 2817-27. PMID 20466733 DOI: 10.1093/Hmg/Ddq182 |
0.466 |
|
| 2010 |
Gripp KW, Hopkins E, Doyle D, Dobyns WB. High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: Brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities American Journal of Medical Genetics, Part A. 152: 1161-1168. PMID 20425820 DOI: 10.1002/Ajmg.A.33391 |
0.44 |
|
| 2010 |
Leventer RJ, Jansen A, Pilz DT, Stoodley N, Marini C, Dubeau F, Malone J, Mitchell LA, Mandelstam S, Scheffer IE, Berkovic SF, Andermann F, Andermann E, Guerrini R, Dobyns WB. Clinical and imaging heterogeneity of polymicrogyria: A study of 328 patients Brain. 133: 1415-1427. PMID 20403963 DOI: 10.1093/Brain/Awq078 |
0.353 |
|
| 2010 |
Dobyns WB. The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia: Malformations of cortical development - Genetics Epilepsia. 51: 5-9. PMID 20331703 DOI: 10.1111/J.1528-1167.2009.02433.X |
0.302 |
|
| 2010 |
Pavone P, Ruggieri M, Lombardo I, Sudi J, Biancheri R, Castellano-Chiodo D, Rossi A, Incorpora G, Nowak NJ, Christian SL, Pavone L, Dobyns WB. Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q. European Journal of Pediatrics. 169: 475-481. PMID 19838731 DOI: 10.1007/S00431-009-1061-6 |
0.429 |
|
| 2010 |
Mineyko A, Doja A, Hurteau J, Dobyns WB, Das S, Boycott KM. A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism Journal of Child Neurology. 25: 738-741. PMID 19808989 DOI: 10.1177/0883073809343312 |
0.437 |
|
| 2010 |
Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, ... ... Dobyns WB, et al. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). Journal of Medical Genetics. 47: 8-21. PMID 19574260 DOI: 10.1136/Jmg.2009.067249 |
0.471 |
|
| 2010 |
Kumar RA, Sudi J, Babatz TD, Brune CW, Oswald D, Yen M, Nowak NJ, Cook EH, Christian SL, Dobyns WB. A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism. Journal of Medical Genetics. 47: 81-90. PMID 19546099 DOI: 10.1136/Jmg.2008.065821 |
0.426 |
|
| 2010 |
Barkovich AJ, Dobyns WB, Millen KJ. Letter to the editor: Reply: Sagging and swelling of the midbrain suggest spontaneous intracranial hypotension rather than a malformation Brain. 133: e149. DOI: 10.1093/brain/awq031 |
0.545 |
|
| 2010 |
Aldinger K, Blank M, Lehmann O, Dobyns W, Millen K. [S7.3]: Cerebellar malformations in mice and humans illuminate novel developmental principles International Journal of Developmental Neuroscience. 28: 651-651. DOI: 10.1016/J.Ijdevneu.2010.07.036 |
0.573 |
|
| 2009 |
Babatz TD, Kumar RA, Sudi J, Dobyns WB, Christian SL. Copy number and sequence variants implicate APBA2 as an autism candidate gene Autism Research. 2: 359-364. PMID 20029827 DOI: 10.1002/Aur.107 |
0.448 |
|
| 2009 |
Barkovich AJ, Millen KJ, Dobyns WB. A developmental and genetic classification for midbrain-hindbrain malformations. Brain : a Journal of Neurology. 132: 3199-230. PMID 19933510 DOI: 10.1093/Brain/Awp247 |
0.652 |
|
| 2009 |
Aldinger KA, Lehmann OJ, Hudgins L, Chizhikov VV, Bassuk AG, Ades LC, Krantz ID, Dobyns WB, Millen KJ. FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nature Genetics. 41: 1037-42. PMID 19668217 DOI: 10.1038/Ng.422 |
0.703 |
|
| 2009 |
Marsh E, Fulp C, Gomez E, Nasrallah I, Minarcik J, Sudi J, Christian SL, Mancini G, Labosky P, Dobyns W, Brooks-Kayal A, Golden JA. Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. Brain : a Journal of Neurology. 132: 1563-76. PMID 19439424 DOI: 10.1093/Brain/Awp107 |
0.448 |
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| 2009 |
Solomon BD, Lacbawan F, Jain M, Domene S, Roessler E, Moore C, Dobyns WB, Muenke M. A novel six3 mutation segregates with holoprosencephaly in a large family American Journal of Medical Genetics, Part A. 149: 919-925. PMID 19353631 DOI: 10.1002/Ajmg.A.32813 |
0.483 |
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| 2009 |
Gripp KW, Hopkins E, Vinkler C, Lev D, Malinger G, Lerman-Sagie T, Dobyns WB. Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes American Journal of Medical Genetics, Part A. 149: 868-876. PMID 19353582 DOI: 10.1002/Ajmg.A.32732 |
0.449 |
|
| 2009 |
Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domené S, Vélez JI, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, Smith W, Omar S, McLean SD, Clarkson K, ... ... Dobyns WB, et al. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. Journal of Medical Genetics. 46: 389-98. PMID 19346217 DOI: 10.1136/Jmg.2008.063818 |
0.485 |
|
| 2009 |
Kumar RA, Marshall CR, Badner JA, Babatz TD, Mukamel Z, Aldinger KA, Sudi J, Brune CW, Goh G, Karamohamed S, Sutcliffe JS, Cook EH, Geschwind DH, Dobyns WB, Scherer SW, et al. Association and mutation analyses of 16p11.2 autism candidate genes. Plos One. 4: e4582. PMID 19242545 DOI: 10.1371/Journal.Pone.0004582 |
0.431 |
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| 2009 |
Rajab A, Aldinger KA, El-Shirbini HA, Dobyns WB, Ross ME. Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2. American Journal of Medical Genetics. Part A. 149: 129-37. PMID 19161147 DOI: 10.1002/Ajmg.A.32630 |
0.447 |
|
| 2009 |
Haverfield EV, Whited AJ, Petras KS, Dobyns WB, Das S. Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia. European Journal of Human Genetics : Ejhg. 17: 911-8. PMID 19050731 DOI: 10.1038/Ejhg.2008.213 |
0.385 |
|
| 2009 |
Nicholas AK, Swanson EA, Cox JJ, Karbani G, Malik S, Springell K, Hampshire D, Ahmed M, Bond J, Di Benedetto D, Fichera M, Romano C, Dobyns WB, Woods CG. The molecular landscape of ASPM mutations in primary microcephaly. Journal of Medical Genetics. 46: 249-53. PMID 19028728 DOI: 10.1136/Jmg.2008.062380 |
0.456 |
|
| 2009 |
Shrimpton AE, Kessler JA, Shaffer LG, Stack C, Jalali A, Little R, Goldstein J, Angle B, Chary A, Coppinger J, Mathison DJ, Khan S, Poznanski AK, Dobyns WB, Craig DW, et al. Variability of epilepsy, autism, brachydactyly, and other clinical features in familial and sporadic 2q37.3 deletion Journal of Pediatric Neurology. 7: 279-283. DOI: 10.3233/Jpn-2009-0312 |
0.4 |
|
| 2009 |
Manzini M, Gleason D, Chang B, Hill R, Partlow J, Barry B, Poduri A, Basel-Vanagaite L, Seidhamed M, Salih M, Dobyns W, Walsh C. EM.P.2.04 Unraveling the genetic complexity of alpha-dystroglycanopathies: Ethnically diverse pathogenic mutations Neuromuscular Disorders. 19: 552-553. DOI: 10.1016/J.Nmd.2009.06.033 |
0.33 |
|
| 2008 |
Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J, Christian SL, Ullmann R, Kuechler A, Haas CA, Flubacher A, Charnas LR, Uyanik G, Frank U, Klopocki E, ... Dobyns WB, et al. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nature Genetics. 40: 1065-7. PMID 19165920 DOI: 10.1038/Ng.194 |
0.485 |
|
| 2008 |
Briggs TA, Wolf NI, D'Arrigo S, Ebinger F, Harting I, Dobyns WB, Livingston JH, Rice GI, Crooks D, Rowland-Hill CA, Squier W, Stoodley N, Pilz DT, Crow YJ. Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct "pseudo-TORCH" phenotype American Journal of Medical Genetics, Part A. 146: 3173-3180. PMID 19012351 DOI: 10.1002/Ajmg.A.32614 |
0.377 |
|
| 2008 |
Manzini MC, Gleason D, Chang BS, Hill RS, Barry BJ, Partlow JN, Poduri A, Currier S, Galvin-Parton P, Shapiro LR, Schmidt K, Davis JG, Basel-Vanagaite L, Seidahmed MZ, Salih MA, ... Dobyns WB, et al. Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. Human Mutation. 29: E231-41. PMID 18752264 DOI: 10.1002/Humu.20844 |
0.486 |
|
| 2008 |
Van Maldergem L, Yuksel-Apak M, Kayserili H, Seemanova E, Giurgea S, Basel-Vanagaite L, Leao-Teles E, Vigneron J, Foulon M, Greally M, Jaeken J, Mundlos S, Dobyns WB. Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. Neurology. 71: 1602-8. PMID 18716235 DOI: 10.1212/01.Wnl.0000327822.52212.C7 |
0.452 |
|
| 2008 |
Chanda B, Asai-Coakwell M, Ye M, Mungall AJ, Barrow M, Dobyns WB, Behesti H, Sowden JC, Carter NP, Walter MA, Lehmann OJ. A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation. Human Molecular Genetics. 17: 3446-58. PMID 18694899 DOI: 10.1093/Hmg/Ddn238 |
0.351 |
|
| 2008 |
Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, et al. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. American Journal of Human Genetics. 83: 170-9. PMID 18674751 DOI: 10.1016/J.Ajhg.2008.06.023 |
0.627 |
|
| 2008 |
Merello E, Swanson E, De Marco P, Akhter M, Striano P, Rossi A, Cama A, Leventer RJ, Guerrini R, Capra V, Dobyns WB. No major role for the EMX2 gene in schizencephaly. American Journal of Medical Genetics. Part A. 146: 1142-50. PMID 18409201 DOI: 10.1002/Ajmg.A.32264 |
0.483 |
|
| 2008 |
Christian SL, Brune CW, Sudi J, Kumar RA, Liu S, Karamohamed S, Badner JA, Matsui S, Conroy J, McQuaid D, Gergel J, Hatchwell E, Gilliam TC, Gershon ES, Nowak NJ, ... Dobyns WB, et al. Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biological Psychiatry. 63: 1111-7. PMID 18374305 DOI: 10.1016/J.Biopsych.2008.01.009 |
0.388 |
|
| 2008 |
Zaki MS, Abdel-Aleem A, Abdel-Salam G, Marsh SE, Silhavy JL, Barkovich AJ, Ross ME, Saleem SN, Dobyns WB, Gleeson JG. The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families. Neurology. 70: 556-65. PMID 18268248 DOI: 10.1212/01.Wnl.0000277644.12087.Fd |
0.617 |
|
| 2008 |
Guerrini R, Dobyns WB, Barkovich AJ. Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options Trends in Neurosciences. 31: 154-162. PMID 18262290 DOI: 10.1016/J.Tins.2007.12.004 |
0.341 |
|
| 2008 |
Jalali A, Aldinger KA, Chary A, McLone DG, Bowman RM, Le LC, Jardine P, Newbury-Ecob R, Mallick A, Jafari N, Russell EJ, Curran J, Nguyen P, Ouahchi K, Lee C, ... Dobyns WB, et al. Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity. Human Genetics. 123: 237-45. PMID 18204864 DOI: 10.1007/S00439-008-0467-Y |
0.648 |
|
| 2008 |
Kumar RA, KaraMohamed S, Sudi J, Conrad DF, Brune C, Badner JA, Gilliam TC, Nowak NJ, Cook EH, Dobyns WB, Christian SL. Recurrent 16p11.2 microdeletions in autism. Human Molecular Genetics. 17: 628-38. PMID 18156158 DOI: 10.1093/Hmg/Ddm376 |
0.361 |
|
| 2007 |
Garavelli L, Guareschi E, Errico S, Simoni A, Bergonzini P, Zollino M, Gurrieri F, Mancini GM, Schot R, Van Der Spek PJ, Frigieri G, Zonari P, Albertini E, Della Giustina E, Amarri S, ... ... Dobyns WB, et al. Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): Report of a new case Neuropediatrics. 38: 200-203. PMID 18058629 DOI: 10.1055/S-2007-985908 |
0.389 |
|
| 2007 |
Moog U, Jones MC, Viskochil DH, Verloes A, Van Allen MI, Dobyns WB. Brain anomalies in encephalocraniocutaneous lipomatosis American Journal of Medical Genetics, Part A. 143: 2963-2972. PMID 18000987 DOI: 10.1002/Ajmg.A.32074 |
0.414 |
|
| 2007 |
Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, Butler MG, Zackai E, Campbell L, Saitta SC, Clericuzio CL, Milunsky JM, Hoyme HE, Shieh J, Moeschler JB, et al. Neuroimaging findings in Macrocephaly-Capillary Malformation: A longitudinal study of 17 patients American Journal of Medical Genetics, Part A. 143: 2981-3008. PMID 18000912 DOI: 10.1002/Ajmg.A.32040 |
0.413 |
|
| 2007 |
Barkovich AJ, Millen KJ, Dobyns WB. A developmental classification of malformations of the brainstem. Annals of Neurology. 62: 625-39. PMID 17924529 DOI: 10.1002/Ana.21239 |
0.648 |
|
| 2007 |
Boland E, Clayton-Smith J, Woo VG, McKee S, Manson FD, Medne L, Zackai E, Swanson EA, Fitzpatrick D, Millen KJ, Sherr EH, Dobyns WB, Black GC. Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. American Journal of Human Genetics. 81: 292-303. PMID 17668379 DOI: 10.1086/519999 |
0.631 |
|
| 2007 |
Guerrini R, Moro F, Kato M, Barkovich AJ, Shiihara T, McShane MA, Hurst J, Loi M, Tohyama J, Norci V, Hayasaka K, Kang UJ, Das S, Dobyns WB. Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. Neurology. 69: 427-33. PMID 17664401 DOI: 10.1212/01.Wnl.0000266594.16202.C1 |
0.487 |
|
| 2007 |
O'Driscoll M, Dobyns WB, van Hagen JM, Jeggo PA. Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling. American Journal of Human Genetics. 81: 77-86. PMID 17564965 DOI: 10.1086/518696 |
0.391 |
|
| 2007 |
Zaki M, Shehab M, El-Aleem AA, Abdel-Salam G, Koeller HB, Ilkin Y, Ross ME, Dobyns WB, Gleeson JG. Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. American Journal of Medical Genetics. Part A. 143: 939-44. PMID 17431900 DOI: 10.1002/Ajmg.A.31667 |
0.631 |
|
| 2007 |
Brashear A, Dobyns WB, de Carvalho Aguiar P, Borg M, Frijns CJ, Gollamudi S, Green A, Guimaraes J, Haake BC, Klein C, Linazasoro G, Münchau A, Raymond D, Riley D, Saunders-Pullman R, et al. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain : a Journal of Neurology. 130: 828-35. PMID 17282997 DOI: 10.1093/Brain/Awl340 |
0.459 |
|
| 2007 |
Cantagrel V, Lossi AM, Lisgo S, Missirian C, Borges A, Philip N, Fernandez C, Cardoso C, Figarella-Branger D, Moncla A, Lindsay S, Dobyns WB, Villard L. Truncation of NHEJ1 in a patient with polymicrogyria. Human Mutation. 28: 356-64. PMID 17191205 DOI: 10.1002/Humu.20450 |
0.442 |
|
| 2007 |
Kumar RA, Leach S, Bonaguro R, Chen J, Yokom DW, Abrahams BS, Seaver L, Schwartz CE, Dobyns W, Brooks-Wilson A, Simpson EM. Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations. Genes, Brain, and Behavior. 6: 503-16. PMID 17054721 DOI: 10.1111/J.1601-183X.2006.00277.X |
0.452 |
|
| 2006 |
Robin NH, Taylor CJ, McDonald-McGinn DM, Zackai EH, Bingham P, Collins KJ, Earl D, Gill D, Granata T, Guerrini R, Katz N, Kimonis V, Lin JP, Lynch DR, Mohammed SN, ... ... Dobyns WB, et al. Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. American Journal of Medical Genetics. Part A. 140: 2416-25. PMID 17036343 DOI: 10.1002/Ajmg.A.31443 |
0.463 |
|
| 2006 |
Dobyns WB. The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked Acta Paediatrica, International Journal of Paediatrics. 95: 11-15. PMID 16720459 DOI: 10.1080/08035320600618759 |
0.333 |
|
| 2006 |
Martin RD, Maclarnon AM, Phillips JL, Dussubieux L, Williams PR, Dobyns WB. Comment on "The Brain of LB1, Homo floresiensis". Science (New York, N.Y.). 312: 999; author reply 99. PMID 16709768 DOI: 10.1126/Science.1121144 |
0.326 |
|
| 2006 |
Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C, Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M, Palmeri S, Said E, et al. Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. Brain : a Journal of Neurology. 129: 1892-906. PMID 16684786 DOI: 10.1093/brain/awl125 |
0.397 |
|
| 2006 |
Tsao JW, Neal J, Apse K, Stephan MJ, Dobyns WB, Hill RS, Walsh CA, Sheen VL. Cerebellar ataxia with progressive improvement. Archives of Neurology. 63: 594-7. PMID 16606775 DOI: 10.1001/Archneur.63.4.594 |
0.353 |
|
| 2006 |
Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E, Zaki MS, Abdel-Aleem A, Abdel-Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB, et al. AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Annals of Neurology. 59: 527-34. PMID 16453322 DOI: 10.1002/Ana.20749 |
0.651 |
|
| 2006 |
Parisi MA, Doherty D, Eckert ML, Shaw DW, Ozyurek H, Aysun S, Giray O, Al Swaid A, Al Shahwan S, Dohayan N, Bakhsh E, Indridason OS, Dobyns WB, Bennett CL, Chance PF, et al. AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. Journal of Medical Genetics. 43: 334-9. PMID 16155189 DOI: 10.1136/Jmg.2005.036608 |
0.485 |
|
| 2005 |
Wieck G, Leventer RJ, Squier WM, Jansen A, Andermann E, Dubeau F, Ramazzotti A, Guerrini R, Dobyns WB. Periventricular nodular heterotopia with overlying polymicrogyria Brain. 128: 2811-2821. PMID 16311271 DOI: 10.1093/Brain/Awh658 |
0.444 |
|
| 2005 |
Piao X, Chang BS, Bodell A, Woods K, Benzeev B, Topcu M, Guerrini R, Goldberg-Stern H, Sztriha L, Dobyns WB, Barkovich AJ, Walsh CA. Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. Annals of Neurology. 58: 680-7. PMID 16240336 DOI: 10.1002/Ana.20616 |
0.516 |
|
| 2005 |
Forman MS, Squier W, Dobyns WB, Golden JA. Genotypically defined lissencephalies show distinct pathologies. Journal of Neuropathology and Experimental Neurology. 64: 847-57. PMID 16215456 DOI: 10.1097/01.Jnen.0000182978.56612.41 |
0.489 |
|
| 2005 |
Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB. A developmental and genetic classification for malformations of cortical development. Neurology. 65: 1873-87. PMID 16192428 DOI: 10.1212/01.Wnl.0000183747.05269.2D |
0.396 |
|
| 2005 |
Gilbert SL, Dobyns WB, Lahn BT. Genetic links between brain development and brain evolution. Nature Reviews. Genetics. 6: 581-90. PMID 15951746 DOI: 10.1038/Nrg1634 |
0.351 |
|
| 2005 |
Kato M, Dobyns WB. X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: Proposal for a new term, "interneuronopathy" Journal of Child Neurology. 20: 392-397. PMID 15921244 DOI: 10.1177/08830738050200042001 |
0.442 |
|
| 2005 |
Pancoast M, Dobyns W, Golden JA. Interneuron deficits in patients with the Miller-Dieker syndrome. Acta Neuropathologica. 109: 400-4. PMID 15739099 DOI: 10.1007/S00401-004-0979-Z |
0.412 |
|
| 2005 |
Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, Maina EN, Morgan NV, Tee L, Morton J, Ainsworth JR, Horn D, Rosser E, Cole TR, Stolte-Dijkstra I, ... ... Dobyns WB, et al. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nature Genetics. 37: 221-3. PMID 15696165 DOI: 10.1038/Ng1517 |
0.45 |
|
| 2005 |
Currier SC, Lee CK, Chang BS, Bodell AL, Pai GS, Job L, Lagae LG, Al-Gazali LI, Eyaid WM, Enns G, Dobyns WB, Walsh CA. Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. American Journal of Medical Genetics. Part A. 133: 53-7. PMID 15637732 DOI: 10.1002/Ajmg.A.30487 |
0.449 |
|
| 2004 |
Gilbert SL, Ozdag F, Ulas UH, Dobyns WB, Lahn BT. Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families. Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology. 8: 151-5. PMID 15771552 DOI: 10.1007/Bf03260058 |
0.451 |
|
| 2004 |
Mirzaa G, Dodge NN, Glass I, Day C, Gripp K, Nicholson L, Straub V, Voit T, Dobyns WB. Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. Neuropediatrics. 35: 353-9. PMID 15627943 DOI: 10.1055/S-2004-830497 |
0.439 |
|
| 2004 |
Diesen C, Saarinen A, Pihko H, Rosenlew C, Cormand B, Dobyns WB, Dieguez J, Valanne L, Joensuu T, Lehesjoki AE. POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. Journal of Medical Genetics. 41: e115. PMID 15466003 DOI: 10.1136/Jmg.2004.020701 |
0.346 |
|
| 2004 |
Grinberg I, Northrup H, Ardinger H, Prasad C, Dobyns WB, Millen KJ. Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation. Nature Genetics. 36: 1053-5. PMID 15338008 DOI: 10.1038/Ng1420 |
0.658 |
|
| 2004 |
Dobyns WB, Filauro A, Tomson BN, Chan AS, Ho AW, Ting NT, Oosterwijk JC, Ober C. Inheritance of most X-linked traits is not dominant or recessive, just X-linked. American Journal of Medical Genetics. Part A. 129: 136-43. PMID 15316978 DOI: 10.1002/Ajmg.A.30123 |
0.33 |
|
| 2004 |
de Carvalho Aguiar P, Sweadner KJ, Penniston JT, Zaremba J, Liu L, Caton M, Linazasoro G, Borg M, Tijssen MA, Bressman SB, Dobyns WB, Brashear A, Ozelius LJ. Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron. 43: 169-75. PMID 15260953 DOI: 10.1016/J.Neuron.2004.06.028 |
0.383 |
|
| 2004 |
Kamm C, Leung J, Joseph S, Dobyns WB, Brashear A, Breakefield XO, Ozelius LJ. Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene. Movement Disorders : Official Journal of the Movement Disorder Society. 19: 845-7. PMID 15254951 DOI: 10.1002/Mds.20095 |
0.394 |
|
| 2004 |
Guerrini R, Mei D, Sisodiya S, Sicca F, Harding B, Takahashi Y, Dorn T, Yoshida A, Campistol J, Krämer G, Moro F, Dobyns WB, Parrini E. Germline and mosaic mutations of FLN1 in men with periventricular heterotopia Neurology. 63: 51-56. PMID 15249610 DOI: 10.1212/01.Wnl.0000132818.84827.4D |
0.463 |
|
| 2004 |
Graham JM, Hennekam R, Dobyns WB, Roeder E, Busch D. MICRO syndrome: An entity distinct from COFS syndrome American Journal of Medical Genetics. 128: 235-245. PMID 15216543 DOI: 10.1002/Ajmg.A.30060 |
0.425 |
|
| 2004 |
Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF, Glass IA. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. American Journal of Human Genetics. 75: 82-91. PMID 15138899 DOI: 10.1086/421846 |
0.611 |
|
| 2004 |
Piao X, Hill RS, Bodell A, Chang BS, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Ross ME, Michaud JL, Déscarie JC, Barkovich AJ, et al. G protein-coupled receptor-dependent development of human frontal cortex. Science (New York, N.Y.). 303: 2033-6. PMID 15044805 DOI: 10.1126/Science.1092780 |
0.335 |
|
| 2004 |
Keegan CE, Vilain E, Mohammed M, Lehoczky J, Dobyns WB, Archer SM, Innis JW. Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal. American Journal of Medical Genetics. Part A. 125: 293-8. PMID 14994240 DOI: 10.1002/Ajmg.A.20455 |
0.352 |
|
| 2004 |
Gleeson JG, Keeler LC, Parisi MA, Marsh SE, Chance PF, Glass IA, Graham Jr JM, Maria BL, Barkovich AJ, Dobyns WB. Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. American Journal of Medical Genetics. Part A. 125: 125-34; discussion 1. PMID 14981712 DOI: 10.1002/Ajmg.A.20437 |
0.608 |
|
| 2004 |
Stevens CA, Dobyns WB. Septo-Optic Dysplasia and Amniotic Bands: Further Evidence for a Vascular Pathogenesis American Journal of Medical Genetics. 125: 12-16. PMID 14755460 DOI: 10.1002/Ajmg.A.20417 |
0.385 |
|
| 2004 |
Kato M, Das S, Petras K, Kitamura K, Morohashi KI, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fukuda T, Guerrini R, Iida E, ... ... Dobyns WB, et al. Mutations of ARX Are Associated with Striking Pleiotropy and Consistent Genotype-Phenotype Correlation Human Mutation. 23: 147-159. PMID 14722918 DOI: 10.1002/Humu.10310 |
0.498 |
|
| 2004 |
Giampietro PF, Babu D, Koehn MA, Jacobson DM, Mueller-Schrader KA, Moretti C, Patten SF, Shaffer LG, Gorlin RJ, Dobyns WB. New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria. American Journal of Medical Genetics. Part A. 124: 202-8. PMID 14699622 DOI: 10.1002/Ajmg.A.20377 |
0.346 |
|
| 2003 |
Leeflang EP, Marsh SE, Parrini E, Moro F, Pilz D, Dobyns WB, Guerrini R, Wheless JW, Gleeson JG. Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes. Journal of Medical Genetics. 40: e128. PMID 14684696 DOI: 10.1136/Jmg.40.12.E128 |
0.556 |
|
| 2003 |
Rossi M, Guerrini R, Dobyns WB, Andria G, Winter RM. Characterization of Brain Malformations in the Baraitser-Winter Syndrome and Review of the Literature Neuropediatrics. 34: 287-292. PMID 14681753 DOI: 10.1055/S-2003-44666 |
0.42 |
|
| 2003 |
de Bernabé DB, van Bokhoven H, van Beusekom E, Van den Akker W, Kant S, Dobyns WB, Cormand B, Currier S, Hamel B, Talim B, Topaloglu H, Brunner HG. A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. Journal of Medical Genetics. 40: 845-8. PMID 14627679 DOI: 10.1136/Jmg.40.11.845 |
0.452 |
|
| 2003 |
Sicca F, Kelemen A, Genton P, Das S, Mei D, Moro F, Dobyns WB, Guerrini R. Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. Neurology. 61: 1042-6. PMID 14581661 DOI: 10.1212/Wnl.61.8.1042 |
0.459 |
|
| 2003 |
Parisi MA, Dobyns WB. Human malformations of the midbrain and hindbrain: review and proposed classification scheme. Molecular Genetics and Metabolism. 80: 36-53. PMID 14567956 DOI: 10.1016/J.Ymgme.2003.08.010 |
0.439 |
|
| 2003 |
Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, Dobyns W, Elias E, Gallagher R, Hordijk R, Hoyme G, Irons M, Jewett T, LeMerrer M, Lubinsky M, et al. Toriello-Carey syndrome: delineation and review. American Journal of Medical Genetics. Part A. 123: 84-90. PMID 14556252 DOI: 10.1002/Ajmg.A.20493 |
0.371 |
|
| 2003 |
Kato M, Das S, Petras K, Sawaishi Y, Dobyns WB. Polyalanine expansion of ARX associated with cryptogenic West syndrome Neurology. 61: 267-268. PMID 12874418 DOI: 10.1212/01.Wnl.0000068012.69928.92 |
0.476 |
|
| 2003 |
Zhang W, Vajsar J, Cao P, Breningstall G, Diesen C, Dobyns W, Herrmann R, Lehesjoki AE, Steinbrecher A, Talim B, Toda T, Topaloglu H, Voit T, Schachter H. Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents. Clinical Biochemistry. 36: 339-44. PMID 12849864 DOI: 10.1016/S0009-9120(03)00036-5 |
0.344 |
|
| 2003 |
Guerrini R, Moro F, Andermann E, Hughes E, D'Agostino D, Carrozzo R, Bernasconi A, Flinter F, Parmeggiani L, Volzone A, Parrini E, Mei D, Jarosz JM, Morris RG, Pratt P, ... ... Dobyns WB, et al. Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations. Annals of Neurology. 54: 30-7. PMID 12838518 DOI: 10.1002/Ana.10588 |
0.452 |
|
| 2003 |
Ramocki MB, Dowling J, Grinberg I, Kimonis VE, Cardoso C, Gross A, Chung J, Martin CL, Ledbetter DH, Dobyns WB, Millen KJ. Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32. European Journal of Human Genetics : Ejhg. 11: 527-34. PMID 12825074 DOI: 10.1038/Sj.Ejhg.5200995 |
0.626 |
|
| 2003 |
Philip N, Chabrol B, Lossi AM, Cardoso C, Guerrini R, Dobyns WB, Raybaud C, Villard L. Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia. Journal of Medical Genetics. 40: 441-6. PMID 12807966 DOI: 10.1136/Jmg.40.6.441 |
0.494 |
|
| 2003 |
Toyo-oka K, Shionoya A, Gambello MJ, Cardoso C, Leventer R, Ward HL, Ayala R, Tsai LH, Dobyns W, Ledbetter D, Hirotsune S, Wynshaw-Boris A. 14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. Nature Genetics. 34: 274-85. PMID 12796778 DOI: 10.1038/Ng1169 |
0.404 |
|
| 2003 |
Chang BS, Piao X, Bodell A, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Grant PE, Barkovich AJ, Walsh CA. Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. Annals of Neurology. 53: 596-606. PMID 12730993 DOI: 10.1002/Ana.10520 |
0.467 |
|
| 2003 |
Kato M, Dobyns WB. Lissencephaly and the molecular basis of neuronal migration Human Molecular Genetics. 12: R89-R96. PMID 12668601 DOI: 10.1093/Hmg/Ddg086 |
0.434 |
|
| 2003 |
Cardoso C, Leventer RJ, Ward HL, Toyo-oka K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH. Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3 American Journal of Human Genetics. 72: 918-930. PMID 12621583 DOI: 10.1086/374320 |
0.424 |
|
| 2003 |
Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB. Classification system for malformations of cortical development: update 2001. Neurology. 57: 2168-78. PMID 11785496 DOI: 10.1212/Wnl.57.12.2168 |
0.388 |
|
| 2002 |
D'Agostino MD, Bernasconi A, Das S, Bastos A, Valerio RM, Palmini A, Costa da Costa J, Scheffer IE, Berkovic S, Guerrini R, Dravet C, Ono J, Gigli G, Federico A, Booth F, ... ... Dobyns WB, et al. Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. Brain : a Journal of Neurology. 125: 2507-22. PMID 12390976 DOI: 10.1093/Brain/Awf248 |
0.603 |
|
| 2002 |
Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka-Kogo A, Kusaka M, Omichi K, Suzuki R, Kato-Fukui Y, Kamiirisa K, Matsuo M, Kamijo SI, Kasahara M, Yoshioka H, Ogata T, ... ... Dobyns WB, et al. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans Nature Genetics. 32: 359-369. PMID 12379852 DOI: 10.1038/Ng1009 |
0.471 |
|
| 2002 |
Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, et al. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. American Journal of Human Genetics. 71: 1033-43. PMID 12369018 DOI: 10.1086/342975 |
0.474 |
|
| 2002 |
Martin CL, Waggoner DJ, Wong A, Uhrig S, Roseberry JA, Hedrick JF, Pack SD, Russell K, Zackai E, Dobyns WB, Ledbetter DH. "Molecular rulers" for calibrating phenotypic effects of telomere imbalance. Journal of Medical Genetics. 39: 734-40. PMID 12362030 DOI: 10.1136/Jmg.39.10.734 |
0.408 |
|
| 2002 |
Villard L, Nguyen K, Cardoso C, Martin CL, Weiss AM, Sifry-Platt M, Grix AW, Graham JM, Winter RM, Leventer RJ, Dobyns WB. A locus for bilateral perisylvian polymicrogyria maps to Xq28. American Journal of Human Genetics. 70: 1003-8. PMID 11822025 DOI: 10.1086/339433 |
0.429 |
|
| 2002 |
Cardoso C, Leventer RJ, Dowling JJ, Ward HL, Chung J, Petras KS, Roseberry JA, Weiss AM, Das S, Martin CL, Pilz DT, Dobyns WB, Ledbetter DH. Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1). Human Mutation. 19: 4-15. PMID 11754098 DOI: 10.1002/Humu.10028 |
0.484 |
|
| 2002 |
Leventer RJ, Cardoso C, Ledbetter DH, Dobyns WB. LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. Neurology. 57: 416-22. PMID 11502906 DOI: 10.1212/Wnl.57.3.416 |
0.476 |
|
| 2001 |
Ross ME, Swanson K, Dobyns WB. Lissencephaly with cerebellar hypoplasia (LCH): A heterogeneous group of cortical malformations Neuropediatrics. 32: 256-263. PMID 11748497 DOI: 10.1055/S-2001-19120 |
0.486 |
|
| 2001 |
Sheen VL, Dixon PH, Fox JW, Hong SE, Kinton L, Sisodiya SM, Duncan JS, Dubeau F, Scheffer IE, Schachter SC, Wilner A, Henchy R, Crino P, Kamuro K, DiMario F, ... ... Dobyns WB, et al. Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Human Molecular Genetics. 10: 1775-83. PMID 11532987 DOI: 10.1093/Hmg/10.17.1775 |
0.386 |
|
| 2001 |
Leventer RJ, Cardoso C, Ledbetter DH, Dobyns WB. LIS1: from cortical malformation to essential protein of cellular dynamics. Trends in Neurosciences. 24: 489-92. PMID 11506866 DOI: 10.1016/S0166-2236(00)01887-7 |
0.331 |
|
| 2001 |
Demelas L, Serra G, Conti M, Achene A, Mastropaolo C, Matsumoto N, Dudlicek LL, Mills PL, Dobyns WB, Ledbetter DH, Das S. Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene. Neurology. 57: 327-30. PMID 11468322 DOI: 10.1212/Wnl.57.2.327 |
0.447 |
|
| 2001 |
Leventer RJ, Mills PL, Dobyns WB. X-linked malformations of cortical development. American Journal of Medical Genetics. 97: 213-20. PMID 11449490 DOI: 10.1002/1096-8628(200023)97:3<213::Aid-Ajmg1039>3.0.Co;2-W |
0.446 |
|
| 2001 |
Cormand B, Pihko H, Bayés M, Valanne L, Santavuori P, Talim B, Gershoni-Baruch R, Ahmad A, van Bokhoven H, Brunner HG, Voit T, Topaloglu H, Dobyns WB, Lehesjoki AE. Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology. 56: 1059-69. PMID 11320179 DOI: 10.1212/Wnl.56.8.1059 |
0.44 |
|
| 2001 |
Barkovich AJ, Kuzniecky RI, Dobyns WB. Radiologic classification of malformations of cortical development. Current Opinion in Neurology. 14: 145-9. PMID 11262727 DOI: 10.1097/00019052-200104000-00002 |
0.412 |
|
| 2001 |
Matsumoto N, Leventer RJ, Kuc JA, Mewborn SK, Dudlicek LL, Ramocki MB, Pilz DT, Mills PL, Das S, Ross ME, Ledbetter DH, Dobyns WB. Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. European Journal of Human Genetics : Ejhg. 9: 5-12. PMID 11175293 DOI: 10.1038/Sj.Ejhg.5200548 |
0.451 |
|
| 2001 |
Nassogne MC, Henrot B, Saint-Martin C, Kadhim H, Dobyns WB, Sébire G. Polymicrogyria and motor neuropathy in Micro syndrome. Neuropediatrics. 31: 218-21. PMID 11071150 DOI: 10.1055/S-2000-7463 |
0.366 |
|
| 2000 |
Cardoso C, Leventer RJ, Matsumoto N, Kuc JA, Ramocki MB, Mewborn SK, Dudlicek LL, May LF, Mills PL, Das S, Pilz DT, Dobyns WB, Ledbetter DH. The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. Human Molecular Genetics. 9: 3019-28. PMID 11115846 |
0.366 |
|
| 2000 |
Poussaint TY, Fox JW, Dobyns WB, Radtke R, Scheffer IE, Berkovic SF, Barnes PD, Huttenlocher PR, Walsh CA. Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings. Pediatric Radiology. 30: 748-55. PMID 11100490 DOI: 10.1007/S002470000312 |
0.41 |
|
| 2000 |
Pavone L, Rizzo R, Pavone P, Curatolo P, Dobyns WB. Diffuse polymicrogyria associated with congenital hydrocephalus, craniosynostosis, severe mental retardation, and minor facial and genital anomalies. Journal of Child Neurology. 15: 493-5. PMID 10921525 DOI: 10.1177/088307380001500715 |
0.378 |
|
| 2000 |
Gleeson JG, Minnerath S, Kuzniecky RI, Dobyns WB, Young ID, Ross ME, Walsh CA. Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes. American Journal of Human Genetics. 67: 574-81. PMID 10915612 DOI: 10.1086/303043 |
0.615 |
|
| 2000 |
Leventer RJ, Pilz DT, Matsumoto N, Ledbetter DH, Dobyns WB. Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis. Molecular Medicine Today. 6: 277-84. PMID 10859564 DOI: 10.1016/S1357-4310(00)01730-5 |
0.422 |
|
| 2000 |
Sweeney KJ, Clark GD, Prokscha A, Dobyns WB, Eichele G. Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development. Mechanisms of Development. 92: 263-71. PMID 10727864 DOI: 10.1016/S0925-4773(00)00242-2 |
0.416 |
|
| 2000 |
Gleeson JG, Luo RF, Grant PE, Guerrini R, Huttenlocher PR, Berg MJ, Ricci S, Cusmai R, Wheless JW, Berkovic S, Scheffer I, Dobyns WB, Walsh CA. Genetic and neuroradiological heterogeneity of double cortex syndrome. Annals of Neurology. 47: 265-9. PMID 10665503 DOI: 10.1002/1531-8249(200002)47:2<265::Aid-Ana22>3.0.Co;2-N |
0.615 |
|
| 2000 |
Guerreiro MM, Andermann E, Guerrini R, Dobyns WB, Kuzniecky R, Silver K, Van Bogaert P, Gillain C, David P, Ambrosetto G, Rosati A, Bartolomei F, Parmeggiani A, Paetau R, Salonen O, et al. Familial perisylvian polymicrogyria: A new familial syndrome of cortical maldevelopment Annals of Neurology. 48: 39-48. DOI: 10.1002/1531-8249(200007)48:1<39::Aid-Ana7>3.0.Co;2-X |
0.38 |
|
| 1999 |
Kerner B, Graham JM, Golden JA, Pepkowitz SH, Dobyns WB. Familial lissencephaly with cleft palate and severe cerebellar hypoplasia American Journal of Medical Genetics. 87: 440-445. PMID 10594886 DOI: 10.1002/(SICI)1096-8628(19991222)87:5<440::AID-AJMG14>3.0.CO;2-# |
0.463 |
|
| 1999 |
Schimmenti LA, Shim HH, Wirtschafter JD, Panzarino VA, Kashtan CE, Kirkpatrick SJ, Wargowski DS, France TD, Michel E, Dobyns WB. Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome. Human Mutation. 14: 369-76. PMID 10533062 DOI: 10.1002/(Sici)1098-1004(199911)14:5<369::Aid-Humu2>3.0.Co;2-E |
0.464 |
|
| 1999 |
Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB. Clinical nosologic and genetic aspects of Joubert and related syndromes. Journal of Child Neurology. 14: 660-6; discussion 66. PMID 10511339 DOI: 10.1177/088307389901401007 |
0.41 |
|
| 1999 |
Satran D, Pierpont ME, Dobyns WB. Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome. American Journal of Medical Genetics. 86: 459-69. PMID 10508989 DOI: 10.1002/(Sici)1096-8628(19991029)86:5<459::Aid-Ajmg12>3.0.Co;2-C |
0.404 |
|
| 1999 |
Dobyns WB, Berry-Kravis E, Havernick NJ, Holden KR, Viskochil D. X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. American Journal of Medical Genetics. 86: 331-7. PMID 10494089 DOI: 10.1002/(Sici)1096-8628(19991008)86:4<331::Aid-Ajmg7>3.0.Co;2-P |
0.422 |
|
| 1999 |
Kramer PL, Mineta M, Klein C, Schilling K, de Leon D, Farlow MR, Breakefield XO, Bressman SB, Dobyns WB, Ozelius LJ, Brashear A. Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13. Annals of Neurology. 46: 176-82. PMID 10443882 DOI: 10.1002/1531-8249(199908)46:2<176::Aid-Ana6>3.0.Co;2-2 |
0.384 |
|
| 1999 |
Pilz DT, Kuc J, Matsumoto N, Bodurtha J, Bernadi B, Tassinari CA, Dobyns WB, Ledbetter DH. Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. Human Molecular Genetics. 8: 1757-60. PMID 10441340 DOI: 10.1093/Hmg/8.9.1757 |
0.447 |
|
| 1999 |
Dobyns WB, Truwit CL, Ross ME, Matsumoto N, Pilz DT, Ledbetter DH, Gleeson JG, Walsh CA, Barkovich AJ. Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology. 53: 270-7. PMID 10430413 DOI: 10.1212/Wnl.53.2.270 |
0.649 |
|
| 1999 |
Pollin TI, Dobyns WB, Crowe CA, Ledbetter DH, Bailey-Wilson JE, Smith ACM. Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3 American Journal of Medical Genetics. 85: 369-375. PMID 10398263 DOI: 10.1002/(Sici)1096-8628(19990806)85:4<369::Aid-Ajmg13>3.0.Co;2-L |
0.333 |
|
| 1999 |
Peiffer A, Singh N, Leppert M, Dobyns WB, Carey JC. Microcephaly with simplified gyral pattern in six related children. American Journal of Medical Genetics. 84: 137-44. PMID 10323739 DOI: 10.1002/(Sici)1096-8628(19990521)84:2<137::Aid-Ajmg10>3.0.Co;2-J |
0.392 |
|
| 1999 |
Gleeson JG, Minnerath SR, Fox JW, Allen KM, Luo RF, Hong SE, Berg MJ, Kuzniecky R, Reitnauer PJ, Borgatti R, Mira AP, Guerrini R, Holmes GL, Rooney CM, Berkovic S, ... ... Dobyns WB, et al. Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. Annals of Neurology. 45: 146-53. PMID 9989615 DOI: 10.1002/1531-8249(199902)45:2<146::Aid-Ana3>3.0.Co;2-N |
0.602 |
|
| 1999 |
Fox JW, Lamperti ED, Ekşioğlu YZ, Hong SE, Feng Y, Graham DA, Scheffer IE, Dobyns WB, Hirsch BA, Radtke RA, Berkovic SF, Huttenlocher PR, Walsh CA. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron. 21: 1315-25. PMID 9883725 DOI: 10.1016/S0896-6273(00)80651-0 |
0.348 |
|
| 1999 |
Allanson JE, Ledbetter DH, Dobyns WB. Classical lissencephaly syndromes: does the face reflect the brain? Journal of Medical Genetics. 35: 920-3. PMID 9832039 DOI: 10.1136/Jmg.35.11.920 |
0.368 |
|
| 1999 |
Henrot B, Nassogne M, Saint-Martin C, Dobyns W, Sébire G. 279 Neurological features of Micro syndrome: Mental retardation, polymicrogyria and motor neuropathy European Journal of Paediatric Neurology. 3: A59-A60. DOI: 10.1016/S1090-3798(99)91145-5 |
0.314 |
|
| 1999 |
Wyllie E, Dobyns WB. Epidermal Nevus Syndrome Neurology. 41: 77-80. DOI: 10.1016/B978-012422150-5/50011-1 |
0.406 |
|
| 1998 |
Pilz DT, Macha ME, Precht KS, Smith AC, Dobyns WB, Ledbetter DH. Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 1: 29-33. PMID 11261426 DOI: 10.1097/00125817-199811000-00007 |
0.354 |
|
| 1998 |
Pilz DT, Matsumoto N, Minnerath S, Mills P, Gleeson JG, Allen KM, Walsh CA, Barkovich AJ, Dobyns WB, Ledbetter DH, Ross ME. LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Human Molecular Genetics. 7: 2029-37. PMID 9817918 DOI: 10.1093/Hmg/7.13.2029 |
0.628 |
|
| 1998 |
Guerrini R, Dobyns WB. Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation. Neurology. 51: 499-503. PMID 9710025 DOI: 10.1212/Wnl.51.2.499 |
0.413 |
|
| 1998 |
Sossey-Alaoui K, Hartung AJ, Guerrini R, Manchester DK, Posar A, Puche-Mira A, Andermann E, Dobyns WB, Srivastava AK. Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects Human Molecular Genetics. 7: 1327-1332. PMID 9668176 DOI: 10.1093/Hmg/7.8.1327 |
0.445 |
|
| 1998 |
Brashear A, Butler IJ, Hyland K, Farlow MR, Dobyns WB. Cerebrospinal fluid homovanillic acid levels in rapid-onset dystonia-parkinsonism. Annals of Neurology. 43: 521-6. PMID 9546335 DOI: 10.1002/Ana.410430417 |
0.32 |
|
| 1998 |
Gleeson JG, Allen KM, Fox JW, Lamperti ED, Berkovic S, Scheffer I, Cooper EC, Dobyns WB, Minnerath SR, Ross ME, Walsh CA. Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell. 92: 63-72. PMID 9489700 DOI: 10.1016/S0092-8674(00)80899-5 |
0.598 |
|
| 1997 |
Gomez CM, Thompson RM, Gammack JT, Perlman SL, Dobyns WB, Truwit CL, Zee DS, Clark HB, Anderson JH. Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Annals of Neurology. 42: 933-50. PMID 9403487 DOI: 10.1002/Ana.410420616 |
0.409 |
|
| 1997 |
Dobyns WB, Guerrini R, Czapansky-Beilman DK, Pierpont ME, Breningstall G, Yock DH, Bonanni P, Truwit CL. Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome. Neurology. 49: 1042-7. PMID 9339687 DOI: 10.1212/WNL.49.4.1042 |
0.312 |
|
| 1997 |
Fink JM, Dobyns WB, Guerrini R, Hirsch BA. Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia. American Journal of Human Genetics. 61: 379-87. PMID 9311743 DOI: 10.1086/514863 |
0.444 |
|
| 1997 |
Moore CA, Toriello HV, Abuelo DN, Bull MJ, Curry CJ, Hall BD, Higgins JV, Stevens CA, Twersky S, Weksberg R, Dobyns WB. Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities. American Journal of Medical Genetics. 70: 67-73. PMID 9129744 DOI: 10.1002/(Sici)1096-8628(19970502)70:1<67::Aid-Ajmg13>3.0.Co;2-V |
0.342 |
|
| 1997 |
Brashear A, DeLeon D, Bressman SB, Thyagarajan D, Farlow MR, Dobyns WB. Rapid-onset dystonia-parkinsonism in a second family. Neurology. 48: 1066-9. PMID 9109901 DOI: 10.1212/Wnl.48.4.1066 |
0.353 |
|
| 1997 |
Ross ME, Allen KM, Srivastava AK, Featherstone T, Gleeson JG, Hirsch B, Harding BN, Andermann E, Abdullah R, Berg M, Czapansky-Bielman D, Flanders DJ, Guerrini R, Motté J, Mira AP, ... ... Dobyns WB, et al. Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain. Human Molecular Genetics. 6: 555-62. PMID 9097958 DOI: 10.1093/Hmg/6.4.555 |
0.537 |
|
| 1997 |
Lo Nigro C, Chong CS, Smith AC, Dobyns WB, Carrozzo R, Ledbetter DH. Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Human Molecular Genetics. 6: 157-64. PMID 9063735 DOI: 10.1093/Hmg/6.2.157 |
0.425 |
|
| 1997 |
Chong SS, Pack SD, Roschke AV, Tanigami A, Carrozzo R, Smith AC, Dobyns WB, Ledbetter DH. A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Human Molecular Genetics. 6: 147-55. PMID 9063734 DOI: 10.1093/Hmg/6.2.147 |
0.382 |
|
| 1997 |
Au KS, Rodriguez JA, Rodriguez E, Dobyns WB, Delgado MR, Northrup H. Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16 Human Mutation. 9: 23-29. PMID 8990004 DOI: 10.1002/(Sici)1098-1004(1997)9:1<23::Aid-Humu4>3.0.Co;2-Q |
0.431 |
|
| 1997 |
Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nature Genetics. 15: 62-9. PMID 8988170 DOI: 10.1038/Ng0197-62 |
0.493 |
|
| 1997 |
Pavone L, Fiumara A, Barone R, Rizzo R, Buttitta P, Dobyns WB, Jaeken J. Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I. Journal of Neurology. 243: 700-5. PMID 8923302 DOI: 10.1007/Bf00873975 |
0.402 |
|
| 1996 |
Mostofsky SH, Blasco PA, Butler IJ, Dobyns WB. Autosomal dominant torsion dystonia with onset in infancy Pediatric Neurology. 15: 245-248. PMID 8916165 DOI: 10.1016/S0887-8994(96)00169-5 |
0.408 |
|
| 1996 |
Dobyns WB, Andermann E, Andermann F, Czapansky-Beilman D, Dubeau F, Dulac O, Guerrini R, Hirsch B, Ledbetter DH, Lee NS, Motte J, Pinard JM, Radtke RA, Ross ME, Tampieri D, et al. X-linked malformations of neuronal migration. Neurology. 47: 331-9. PMID 8757001 DOI: 10.1212/Wnl.47.2.331 |
0.324 |
|
| 1996 |
Dobyns WB, Patton MA, Stratton RF, Mastrobattista JM, Blanton SH, Northrup H. Cobblestone lissencephaly with normal eyes and muscle Neuropediatrics. 27: 70-75. PMID 8737821 DOI: 10.1055/S-2007-973752 |
0.403 |
|
| 1996 |
Barkovich AJ, Kuzniecky RI, Dobyns WB, Jackson GD, Becker LE, Evrard P. A classification scheme for malformations of cortical development. Neuropediatrics. 27: 59-63. PMID 8737819 DOI: 10.1055/S-2007-973750 |
0.34 |
|
| 1996 |
Cohn RD, Gillessen-Kaesbach G, Dobyns WB, Kahn T, Lenard HG, Voit T. Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism. American Journal of Medical Genetics. 63: 314-7. PMID 8723127 DOI: 10.1002/(Sici)1096-8628(19960503)63:1<314::Aid-Ajmg52>3.0.Co;2-N |
0.344 |
|
| 1996 |
Brashear A, Farlow MR, Butler IJ, Kasarskis EJ, Dobyns WB. Variable phenotype of rapid-onset dystonia-parkinsonism. Movement Disorders : Official Journal of the Movement Disorder Society. 11: 151-6. PMID 8684384 DOI: 10.1002/Mds.870110206 |
0.367 |
|
| 1996 |
Dobyns WB. Chromosome X and 17-linked lissencephaly (smooth brain) syndromes Mental Retardation and Developmental Disabilities Research Reviews. 2: 118-121. DOI: 10.1002/(Sici)1098-2779(1996)2:3<118::Aid-Mrdd1>3.0.Co;2-O |
0.451 |
|
| 1995 |
Sanyanusin P, Schimmenti LA, McNoe LA, Ward TA, Pierpont ME, Sullivan MJ, Dobyns WB, Eccles MR. Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nature Genetics. 9: 358-64. PMID 7795640 DOI: 10.1038/Ng0495-358 |
0.4 |
|
| 1995 |
Dodge NN, Dobyns WB. Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome. American Journal of Medical Genetics. 56: 147-50. PMID 7625436 DOI: 10.1002/Ajmg.1320560206 |
0.411 |
|
| 1995 |
Dobyns WB, Truwit CL. Lissencephaly and other malformations of cortical development: 1995 update. Neuropediatrics. 26: 132-47. PMID 7477752 DOI: 10.1055/S-2007-979744 |
0.342 |
|
| 1994 |
Pavone L, Rizzo R, Dobyns WB. Clinical manifestations and evaluation of isolated lissencephaly. Child's Nervous System : Chns : Official Journal of the International Society For Pediatric Neurosurgery. 9: 387-90. PMID 8306352 DOI: 10.1007/Bf00306189 |
0.425 |
|
| 1994 |
Wheeler PG, Dobyns WB, Plager DA, Ellis FD. Familial remitting chorea, nystagmus, and cataracts. American Journal of Medical Genetics. 47: 1215-7. PMID 8291559 DOI: 10.1002/Ajmg.1320470817 |
0.335 |
|
| 1993 |
Reiner O, Carrozzo R, Shen Y, Wehnert M, Faustinella F, Dobyns WB, Caskey CT, Ledbetter DH. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature. 364: 717-21. PMID 8355785 DOI: 10.1038/364717A0 |
0.446 |
|
| 1993 |
Wheeler PG, Weaver DD, Dobyns WB. Benign hereditary chorea. Pediatric Neurology. 9: 337-40. PMID 8292207 DOI: 10.1016/0887-8994(93)90101-H |
0.303 |
|
| 1993 |
Dobyns WB, Ozelius LJ, Kramer PL, Brashear A, Farlow MR, Perry TR, Walsh LE, Kasarskis EJ, Butler IJ, Breakefield XO. Rapid-onset dystonia-parkinsonism. Neurology. 43: 2596-602. PMID 8255463 DOI: 10.1212/Wnl.43.12.2596 |
0.386 |
|
| 1993 |
Dobyns WB, Reiner O, Carrozzo R, Ledbetter DH. Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. Jama. 270: 2838-42. PMID 7907669 DOI: 10.1001/Jama.1993.03510230076039 |
0.447 |
|
| 1991 |
Pavone L, Curatolo P, Rizzo R, Micali G, Incorpora G, Garg BP, Dunn DW, Dobyns WB. Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy. Neurology. 41: 266-71. PMID 1992373 DOI: 10.1212/WNL.41.2_Part_1.266 |
0.354 |
|
| 1990 |
Pavone L, Gullotta F, Incorpora G, Grasso S, Dobyns WB. Isolated lissencephaly: report of four patients from two unrelated families. Journal of Child Neurology. 5: 52-9. PMID 2299140 DOI: 10.1177/088307389000500113 |
0.314 |
|
| 1989 |
Dobyns WB, Pagon RA, Armstrong D, Curry CJ, Greenberg F, Grix A, Holmes LB, Laxova R, Michels VV, Robinow M. Diagnostic criteria for Walker-Warburg syndrome. American Journal of Medical Genetics. 32: 195-210. PMID 2494887 DOI: 10.1002/Ajmg.1320320213 |
0.356 |
|
| 1986 |
Stratton RF, Dobyns WB, Greenberg F, DeSana JB, Moore C, Fidone G, Runge GH, Feldman P, Sekhon GS, Pauli RM. Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome. American Journal of Medical Genetics. 24: 421-32. PMID 3728561 DOI: 10.1002/Ajmg.1320240305 |
0.421 |
|
| 1985 |
Dobyns WB, Kirkpatrick JB, Hittner HM, Roberts RM, Kretzer FL. Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly. American Journal of Medical Genetics. 22: 157-95. PMID 3931474 DOI: 10.1002/Ajmg.1320220118 |
0.41 |
|
| 1984 |
Stratton RF, Dobyns WB, Airhart SD, Ledbetter DH. New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13. Human Genetics. 67: 193-200. PMID 6745939 DOI: 10.1007/Bf00273000 |
0.433 |
|
| 1983 |
Dobyns WB, Stratton RF, Parke JT, Greenberg F, Nussbaum RL, Ledbetter DH. Miller-Dieker syndrome: lissencephaly and monosomy 17p. The Journal of Pediatrics. 102: 552-8. PMID 6834189 DOI: 10.1016/S0022-3476(83)80183-8 |
0.312 |
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